Purpose: To investigate the genetic characteristics of patients with non-syndromic retinitis pigmentosa (RP) analyzed at a single institution. Methods: We conducted a retrospective analysis of 63 patients clinically diagnosed with non-syndromic RP who underwent genetic testing. The clinical features of patients exhibiting the most common mutations, EYS and USH2A, were further assessed through routine ophthalmic examinations. Results: Of the 63 patients, 22 (34.9%) exhibited significant mutations. Notably, EYS and USH2A mutations were each found in 5 patients (7.9%); RP1 mutations were found in 4 patients (6.3%). The average ages at diagnosis were 38.8 years for EYS mutations and 41.8 years for USH2A mutations. The average best-corrected visual acuities were logMAR 0.08 for EYS mutations and logMAR 0.51 for USH2A mutations. Both mutation types showed a decrease in the normal macular area in fundus photographs with increasing age. In USH2A mutations, optical coherence tomography revealed a more pronounced reduction in central macular thickness and central foveal ellipsoid length compared with EYS mutations. Visual field tests indicated a reduction within the central 10° in 40% of EYS mutations and 60% of USH2A mutations. Electroretinography showed non-detectable responses in 2 individuals with EYS mutations and 4 individuals with USH2A mutations (40% and 80%, respectively). Conclusions EYS and USH2A mutations represented 45% of the genetically identified cases; affected patients typically were diagnosed in their 40s. EYS mutations tended to preserve retinal function and central foveal structure better than USH2A mutations.

Purpose: To investigate the genetic characteristics of patients with non-syndromic retinitis pigmentosa (RP) analyzed at a single institution. Methods: We conducted a retrospective analysis of 63 patients clinically diagnosed with non-syndromic RP who underwent genetic testing. The clinical features of patients exhibiting the most common mutations, EYS and USH2A, were further assessed through routine ophthalmic examinations. Results: Of the 63 patients, 22 (34.9%) exhibited significant mutations. Notably, EYS and USH2A mutations were each found in 5 patients (7.9%); RP1 mutations were found in 4 patients (6.3%). The average ages at diagnosis were 38.8 years for EYS mutations and 41.8 years for USH2A mutations. The average best-corrected visual acuities were logMAR 0.08 for EYS mutations and logMAR 0.51 for USH2A mutations. Both mutation types showed a decrease in the normal macular area in fundus photographs with increasing age. In USH2A mutations, optical coherence tomography revealed a more pronounced reduction in central macular thickness and central foveal ellipsoid length compared with EYS mutations. Visual field tests indicated a reduction within the central 10° in 40% of EYS mutations and 60% of USH2A mutations. Electroretinography showed non-detectable responses in 2 individuals with EYS mutations and 4 individuals with USH2A mutations (40% and 80%, respectively). Conclusions EYS and USH2A mutations represented 45% of the genetically identified cases; affected patients typically were diagnosed in their 40s. EYS mutations tended to preserve retinal function and central foveal structure better than USH2A mutations.

Purpose: To investigate the genetic characteristics of patients with non-syndromic retinitis pigmentosa (RP) analyzed at a single institution. Methods: We conducted a retrospective analysis of 63 patients clinically diagnosed with non-syndromic RP who underwent genetic testing. The clinical features of patients exhibiting the most common mutations, EYS and USH2A, were further assessed through routine ophthalmic examinations. Results: Of the 63 patients, 22 (34.9%) exhibited significant mutations. Notably, EYS and USH2A mutations were each found in 5 patients (7.9%); RP1 mutations were found in 4 patients (6.3%). The average ages at diagnosis were 38.8 years for EYS mutations and 41.8 years for USH2A mutations. The average best-corrected visual acuities were logMAR 0.08 for EYS mutations and logMAR 0.51 for USH2A mutations. Both mutation types showed a decrease in the normal macular area in fundus photographs with increasing age. In USH2A mutations, optical coherence tomography revealed a more pronounced reduction in central macular thickness and central foveal ellipsoid length compared with EYS mutations. Visual field tests indicated a reduction within the central 10° in 40% of EYS mutations and 60% of USH2A mutations. Electroretinography showed non-detectable responses in 2 individuals with EYS mutations and 4 individuals with USH2A mutations (40% and 80%, respectively). Conclusions EYS and USH2A mutations represented 45% of the genetically identified cases; affected patients typically were diagnosed in their 40s. EYS mutations tended to preserve retinal function and central foveal structure better than USH2A mutations.

Purpose: To evaluate the clinical characteristics of Korean patients diagnosed with retinitis pigmentosa. Methods: We retrospectively reviewed the medical records of patients diagnosed with retinitis pigmentosa from January 2014 to December 2019. We evaluated age, gender, the chief complaints, posterior subcapsular cataract status, abnormalities on optical coherence tomography, visual field test results, and electrooculograms. Results: A total of 492 eyes of 246 patients were included. The mean patient age was 48.0 ± 16.0 years and the chief complaints were decreased vision and night blindness. The mean logarithm of the minimal angle of resolution (logMAR) best‐corrected visual acuity (BCVA) was 0.31 ± 0.50. The BCVA was 0.5 or better in 368 eyes (74.8%). A total of 328 (71.0%) of 462 eyes that underwent visual field testing exhibited visual field defects within 10º. The mean Arden ratio was 1.28 ± 0.28 for the 242 eyes that underwent electro‐oculography. Optical coherence tomography revealed vitreomacular traction/an epiretinal membrane, cystoid macular edema, and retinal thinning in 135 (27.4%), 48 (9.8%), and 112 (22.8%) eyes, respectively. The ellipsoid zone was intact in 222 eyes (45.1%), disrupted in 220 (44.7%), and absent in 50 (10.2%). Conclusions Most patients with retinitis pigmentosa exhibited visual acuity of 0.5 or better, but also had central visual field defects. Various abnormalities were noted on optical coherence tomography of most patients.

Purpose: To evaluate the clinical characteristics and courses of Best disease in Korean patients. Methods: We retrospectively reviewed the medical records of patients with Best disease followed-up for more than 12 months after diagnosis. The disease stage and best-corrected visual acuity (BCVA) at diagnosis, and stage progression during follow-up, were evaluated. The BCVA at diagnosis was compared to that at the final follow-up. The BCVA changes were compared between those evidencing stage progression and not. Results: A total of 16 patients (32 eyes) were enrolled. The mean follow-up period was 52.1 ± 31.8 months. At diagnosis, three eyes had stage 1, nine stage 2, seven stage 3, 11 stage 4, and two stage 5 disease. During follow-up, stage progression was observed in nine eyes (28.1%). The mean logarithm of the minimal angle of resolution (logMAR) BCVA significantly worsened from 0.19 ± 0.19 at baseline to 0.30 ± 0.27 at the final follow-up (p = 0.004). In six eyes (18.8%), a deterioration of logMAR 0.2 or greater was noted. The extent of deterioration was greater in the nine eyes (0.25 ± 0.26) exhibiting stage progression than in the 24 eyes (0.05 ± 0.08) lacking such progression (p = 0.001). Conclusions The visual acuity of Best disease patients was relatively good at diagnosis. However, stage progression and visual deterioration were noted in some patients. Stage progression was associated with a poor visual prognosis.

Purpose: To evaluate the clinical characteristics and courses of Best disease in Korean patients. Methods: We retrospectively reviewed the medical records of patients with Best disease followed-up for more than 12 months after diagnosis. The disease stage and best-corrected visual acuity (BCVA) at diagnosis, and stage progression during follow-up, were evaluated. The BCVA at diagnosis was compared to that at the final follow-up. The BCVA changes were compared between those evidencing stage progression and not. Results: A total of 16 patients (32 eyes) were enrolled. The mean follow-up period was 52.1 ± 31.8 months. At diagnosis, three eyes had stage 1, nine stage 2, seven stage 3, 11 stage 4, and two stage 5 disease. During follow-up, stage progression was observed in nine eyes (28.1%). The mean logarithm of the minimal angle of resolution (logMAR) BCVA significantly worsened from 0.19 ± 0.19 at baseline to 0.30 ± 0.27 at the final follow-up (p = 0.004). In six eyes (18.8%), a deterioration of logMAR 0.2 or greater was noted. The extent of deterioration was greater in the nine eyes (0.25 ± 0.26) exhibiting stage progression than in the 24 eyes (0.05 ± 0.08) lacking such progression (p = 0.001). Conclusions The visual acuity of Best disease patients was relatively good at diagnosis. However, stage progression and visual deterioration were noted in some patients. Stage progression was associated with a poor visual prognosis.

PURPOSE: To evaluate clinical outcomes of idiopathic epiretinal membrane removal in patients ≥ 80 years of age.METHODS: A retrospective review of medical records was performed with 56 patients who underwent vitrectomy and removal of idiopathic epiretinal membrane. In the ≥ 80 years of age group (n = 28), the best-corrected visual acuity (BCVA) and central macular thickness (CMT) before surgery were compared with those at the final follow-up. The amount of change in the BCVA after surgery was also compared between the ≥ 80 years of age group and the < 80 years of age group (n = 28).RESULTS: In the ≥ 80 years of age group, the mean follow-up period was 19.1 ± 17.0 months. Before surgery, 11 eyes were pseudophakic and 17 eyes were phakic. Combined cataract surgery was performed with epiretinal membrane removal in all 17 phakic eyes. The mean logarithm of the minimal angle of resolution BCVA was 0.75 ± 0.30 before surgery, which improved to 0.50 ± 0.30 at the final follow-up (p < 0.001). The CMT was 458.0 ± 79.7 µm before surgery, which decreased to 367.2 ± 83.4 µm at the final follow-up (p < 0.001). There was no significant difference in the amount of change in the BCVA after the surgery between the ≥ 80 years of age group and the < 80 years of age group (p = 0.547).CONCLUSIONS: In patients with idiopathic epiretinal membrane who were ≥ 80 years of age, the visual acuity was improved or maintained, and was accompanied with anatomical improvement after epiretinal membrane removal with or without cataract surgery. These results suggest the usefulness of epiretinal membrane removal in older patients.
Cataract ; Epiretinal Membrane ; Follow-Up Studies ; Humans ; Medical Records ; Retrospective Studies ; Visual Acuity ; Vitrectomy

PURPOSE: To evaluate the efficacy and safety of BOTULAX® in subjects with essential blepharospasm.METHODS: In this study, a total of 250 subjects with essential blepharospasm were enrolled at 15 investigational sites and a total of 220 subjects completed the study. The efficacy and safety were evaluated at weeks 4 and 16 after treatment compared with baseline. In total, 240 subjects were enrolled, treated with the investigational product, and evaluable for the primary efficacy assessment at week 4 after treatment; these subjects were included in the intention-to-treat (ITT) population. With the ITT set as the main efficacy set, efficacy assessment included Jankovic rating scale (JRS), functional disability score, investigator evaluation of global response and quality of life. Safety assessment including the incidence of adverse events was also performed.RESULTS: In terms of the primary efficacy endpoint (i.e., change in JRS total score at week 4 after treatment from baseline [ITT set]), mean change indicated a statistically significant reduction (p < 0.0001) and demonstrated the non-inferiority of the test drug to similar drugs. In terms of the secondary efficacy endpoints, mean change in JRS total score at week 16 after treatment and mean change in functional disability score at weeks 4 and 16 after treatment both exhibited a statistically significant reduction compared with baseline (p < 0.0001 for all). Among the 249 subjects treated with the investigational product in this study, 44 (17.67%) experienced 76 treatment emergent adverse events but no serious adverse events were observed.CONCLUSIONS: Based on the study results, BOTULAX® is considered to be an effective and safe treatment for essential blepharospasm.

Robotic surgery facilitates surgical procedures by employing flexible arms with multiple degrees of freedom and providing high-quality 3-dimensional imaging. Robot-assisted nipplesparing mastectomy with immediate reconstruction is currently performed to avoid breast scars. Four patients with invasive ductal carcinoma underwent robot-assisted nipple-sparing mastectomy and immediate robot-assisted expander insertion. Through a 6-cm incision along the anterior axillary line, sentinel lymph node biopsy and nipple-sparing mastectomy were performed by oncologic surgeons. The pectoralis major muscle was elevated, an acellular dermal matrix (ADM) sling was created with robotic assistance, and an expander was inserted into the subpectoral, sub-ADM pocket. No patients had major complications such as hematoma, seroma, infection, capsular contracture, or nipple-areolar necrosis. The mean operation time for expander insertion was 1 hour and 20 minutes, and it became shorter with more experience. The first patient completed 2-stage prosthetic reconstruction and was highly satisfied with the unnoticeable scar and symmetric reconstruction. We describe several cases of immediate robot-assisted prosthetic breast reconstruction. This procedure is a feasible surgical option for patients who want to conceal surgical scars.
Acellular Dermis ; Arm ; Breast Implants ; Breast ; Carcinoma, Ductal ; Cicatrix ; Contracture ; Female ; Freedom ; Hematoma ; Humans ; Mammaplasty ; Mastectomy ; Necrosis ; Robotic Surgical Procedures ; Sentinel Lymph Node Biopsy ; Seroma ; Surgeons ; Tissue Expansion Devices

BACKGROUND: Face transplantation has naturally evolved from reconstructive procedures. However, few institutions perform face transplantations, because it is time-consuming and it is necessary to justify non-vital organ transplantation. We investigated the process of organ donation from brain-dead patients and the possibility of incorporating face transplantation into the donation process. METHODS: A retrospective review was performed of 1,074 brain-dead patients from January 2015 to December 2016 in Korea. We analyzed the time intervals from admission to brain death decisions (first, second, and final), the causes of brain death, and the state of the transplanted organs. RESULTS: The patient base (n=1,074) was composed of 747 males and 327 females. The average period between admission to the first brain death decision was 8.5 days (±15.3). The average time intervals between the first brain death decision and medical confirmation using electroencephalography and between the first brain death decision and the final determination of brain death were 16 hours 58 minutes (±14 hours 50 minutes) and 22 hours 57 minutes (±16 hours 16 minutes), respectively. The most common cause of brain death was cerebral hemorrhage/stroke (42.3%), followed by hypoxia (30.1%), and head trauma (25.2%). CONCLUSIONS: When face transplantation is performed, the transplantation team has 22 hours 57 minutes on average to prepare after the first brain death decision. The cause of brain death was head trauma in approximately one-fourth of cases. Although head trauma does not always imply facial trauma, surgeons should be aware that the facial tissue may be compromised in such cases.
Anoxia ; Brain Death ; Brain ; Craniocerebral Trauma ; Electroencephalography ; Facial Transplantation ; Female ; Humans ; Korea ; Male ; Organ Transplantation ; Retrospective Studies ; Surgeons ; Tissue and Organ Procurement ; Tissue Donors ; Transplantation ; Transplants